BOK
BCL2 family apoptosis regulator BOK
Summary
The protein encoded by this gene belongs to the BCL2 family, members of which form homo- or heterodimers, and act as anti- or proapoptotic regulators that are involved in a wide variety of cellular processes. Studies in rat show that this protein has restricted expression in reproductive tissues, interacts strongly with some antiapoptotic BCL2 proteins, not at all with proapoptotic BCL2 proteins, and induces apoptosis in transfected cells. Thus, this protein represents a proapoptotic member of the BCL2 family. [provided by RefSeq, Sep 2011]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6733504 | 2:242,495,953 | A/G | upstream gene variant | — |
| rs56211918 | 2:242,497,274 | G/A | — | — |
| rs76993203 | 2:242,498,497 | G/A | regulatory region variant | — |
| rs201959873 | 2:242,498,941 | A/G | — | uncertain significance |
| rs746767836 | 2:242,499,010 | T/A | — | uncertain significance |
| rs774966630 | 2:242,499,056 | C/T | — | uncertain significance |
| rs1026759376 | 2:242,499,067 | G/A | — | uncertain significance |
| rs1476366897 | 2:242,499,074 | T/G | — | uncertain significance |
| rs755155123 | 2:242,499,088 | G/T | — | uncertain significance |
| rs2066496820 | 2:242,499,104 | T/G | — | uncertain significance |
| rs1245060908 | 2:242,499,112 | C/T | — | uncertain significance |
| rs1553472 | 2:242,500,550 | C/A | — | — |
| rs1553470 | 2:242,500,561 | T/G | — | — |
| rs758501848 | 2:242,501,777 | A/G | — | uncertain significance |
| rs2549629328 | 2:242,501,796 | A/G | — | uncertain significance |
| rs142111641 | 2:242,501,835 | C/A | — | uncertain significance |
| rs12479254 | 2:242,502,956 | C/T | regulatory region variant | — |
| rs7420166 | 2:242,506,733 | G/A | intron variant | — |
| rs777457640 | 2:242,509,561 | T/C | — | uncertain significance |
| rs942954477 | 2:242,509,563 | T/A | — | uncertain significance |
| rs1416884690 | 2:242,509,575 | G/A | — | uncertain significance |
| rs371649114 | 2:242,509,593 | G/T | — | uncertain significance |
| rs141945444 | 2:242,509,658 | C/G | — | uncertain significance |
| rs35717482 | 2:242,510,982 | G/A | intron variant | — |
| rs982838565 | 2:242,511,734 | T/C | — | uncertain significance |
| rs1439600086 | 2:242,511,755 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.